Hereditary diffuse gastric cancer

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Hereditary diffuse gastric cancer

ORPHA:26106Disease

Also called FDGC · Familial diffuse cancer of stomach · Familial diffuse gastric cancer · HDGC · Hereditary diffuse cancer of stomach · Hereditary diffuse gastric adenocarcinoma

What it is

Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.

Key facts

Prevalence
1-9 / 100 000 (annual incidence, Europe)
Age of onset
Adult
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

CDH1Disease-causing germline mutation(s)
MAP3K6Disease-causing germline mutation(s) (loss of function)
CTNNA1Candidate gene tested

ICD-10 codes

C16.9filed under a broader ICD-10 category — shared with 4 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 10900MONDO 0007648OMIM 137215UMLS C4721859

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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